Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative

Abstract

Since its inception in 1963, newborn screening (NBS) has played a pivotal role in early detection and the establishment of appropriate care for infants and children afflicted with inherited metabolic disorders (IMDs). Despite significant advancements in biomarker identification and metabolomics, current NBS protocols only cover a fraction of known IMDs. The integration of genomics holds promise for expanding the scope of standard NBS, albeit presenting additional challenges. Drawing from the experiences of the authors across three European countries, this article reviews the current landscape of conventional NBS for IMDs and explores the potential integration of genomic tools as a primary screening tier. Recommendations are provided for the seamless transition to genomic NBS, considering factors such as regional birth prevalence differentials, treatability of conditions, and technological capabilities.

Keywords

Newborn screening / inborn errors of metabolism / inherited metabolic disorders / rare diseases / biomarkers / genomics / genome sequencing

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